{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T22:04:46Z","timestamp":1790805886549,"version":"4.1.0"},"reference-count":22,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2016,3,1]],"date-time":"2016-03-01T00:00:00Z","timestamp":1456790400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100004319","name":"Pfizer","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004319","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006400","name":"Alnylam Pharmaceuticals","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006400","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2016,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Transthyretin familial amyloid polyneuropathy (<jats:styled-content style=\"fixed-case\">TTR\u2010FAP<\/jats:styled-content>) is a rare, progressive, life\u2010threatening, hereditary disorder caused by mutations in the transthyretin gene and characterized by extracellular deposition of transthyretin\u2010derived amyloid fibrils in peripheral and autonomic nerves, heart, and other organs. <jats:styled-content style=\"fixed-case\">TTR\u2010FAP<\/jats:styled-content> is frequently diagnosed late because the disease is difficult to recognize due to phenotypic heterogeneity. Based on published literature and expert opinion, symptom clusters suggesting <jats:styled-content style=\"fixed-case\">TTR\u2010FAP<\/jats:styled-content> are reviewed, and practical guidance to facilitate earlier diagnosis is provided. <jats:styled-content style=\"fixed-case\">TTR\u2010FAP<\/jats:styled-content> should be suspected if progressive peripheral sensory\u2010motor neuropathy is observed in combination with one or more of the following: family history of a neuropathy, autonomic dysfunction, cardiac hypertrophy, gastrointestinal problems, inexplicable weight loss, carpal tunnel syndrome, renal impairment, or ocular involvement. If <jats:styled-content style=\"fixed-case\">TTR\u2010FAP<\/jats:styled-content> is suspected, transthyretin genotyping, confirmation of amyloid in tissue biopsy, large\u2010 and small\u2010fiber assessment by nerve conduction studies and autonomic system evaluations, and cardiac testing should be performed.<\/jats:p>","DOI":"10.1111\/jns.12153","type":"journal-article","created":{"date-parts":[[2015,12,14]],"date-time":"2015-12-14T04:50:59Z","timestamp":1450068659000},"page":"5-9","source":"Crossref","is-referenced-by-count":266,"title":["\u201cRed\u2010flag\u201d symptom clusters in transthyretin familial amyloid polyneuropathy"],"prefix":"10.1111","volume":"21","author":[{"given":"Isabel","family":"Concei\u00e7\u00e3o","sequence":"first","affiliation":[{"name":"CHLN \u2013 Hospital de Santa Maria, and Clinical and Translational Physiology Unit, Faculty of Medicine\u2010IMM Physiology Institute  Lisbon 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